Understanding CTX: A Rare but Treatable Genetic Disorder
Cerebrotendinous Xanthomatosis (CTX) is a rare but treatable genetic disorder caused by cholesterol buildup in the body. This article dives into the symptoms across different life stages, challenges of diagnosis, treatments, and how to get tested.
Read MoreThe 5 Subtypes of Frontotemporal Dementia (FTD)
Learn more about frontotemporal dementia (FTD) to help you understand a diagnosis. The subtypes range from the most common (behavioral variant frontotemporal dementia) to the least common (Amyotrophic Lateral Sclerosis frontotemporal dementia).
Read MoreHow Probably Genetic Keeps Your Patient Data Confidential
Learn how Probably Genetic is able to provide no-cost genetic testing while keeping your patient data secure. This aggregated, de-identified data can help patient advocacy groups, researchers, and drug developers better understand rare diseases.
Read MoreWhat is Frontotemporal Dementia? Symptoms, Diagnoses, and Treatment
Read MoreUnderstanding the 7 Stages of Frontotemporal Dementia (FTD)
Learn about the 7 stages of frontotemporal dementia (FTD), including symptoms and duration of each stage. Understand the progression of FTD to better prepare and support your loved ones.
Read MoreUnderstanding STXBP1-Related Disorders:
Learn more about STXBP1-related disorders, and apply for Probably Genetic's free genetic testing program if you suspect you or a love one may be affected by the condition.
Read MoreUnderstanding Angelman Syndrome
Learn more about Angelman Syndrome, including symptoms and diagnosis.
Read MoreUnderstanding Primary Ciliary Dyskinesia
Probably Genetic is working to provide no-cost support for diagnosed Primary Ciliary Dyskinesia patients or individuals who suspect they have the condition.
Read MoreOsteogenesis Imperfecta Patients: Access Free Support Resources Today!
Probably Genetic is excited to announce that we have launched a program dedicated to supporting the Osteogenesis Imperfecta community.
Read MoreIs Fibromyalgia coded into your DNA?
There is substantial evidence that some fibromyalgia cases might have a genetic origin but the exact causes still remain unknown.
Read MoreHow to Choose a Genetic Test
Which types of genetic tests are out there? Which types of genetic variation can be detected? Which factors are important for choosing the right provider?
Read MoreWhy experts recommend genetic testing in groups of 3
Comparing the DNA of the parents with their child makes it significantly easier to determine which variant is disease causing.
Read MoreTop Concerns Parents Have Before Getting a Genetic Test for their Child with Autism
“Since as early as 2013, the American College of Medical Genetics has recommended the use of genetic testing as a first-line tool for understanding the cause of Autism.”
Read MoreHow Social Media Helps the Rare Disease Community
The rare disease community has a strong online presence, which allows patients and their families from all over the world to meet other people affected by rare diseases.
Read More5 Rare Disease Stats Everyone Should Know
Since most rare diseases are genetic, it is important to expand access to affordable genetic testing. Genetic testing helps provide answers to those struggling with unexplained symptoms.
Read MoreHow Probably Genetic Uses Patient Information While Remaining Confidential
Probably Genetic understands that our patients are concerned about their privacy. That is why keeping patient information confidential is our priority
Read MoreAll About WHIM Syndrome
WHIM syndrome is an acronym that describes the distinctive characteristics of the condition: Warts, Hypogammaglobulinemia, Infection, and Myelokathexis.
Read More2021 Year in Review
Probably Genetic is filled with gratitude as we reflect on what we have accomplished over the last twelve months—the relationships built, the knowledge gained, and even the mistakes made.
Read MoreAll About Kabuki Syndrome
Lukas Lange, the CEO of Probably Genetic, had the opportunity to speak at the 2021 Virtual Research Conference hosted by the Kabuki Syndrome Foundation.
Read MoreAll About SYNGAP1-related Disorders
SYNGAP1-related disorders describe a group of disorders caused by pathogenic mutations in the SYNGAP1 gene.
Read MoreMultigenerational Mitochondrial Disease: Gina's Story
A patient tells her story to raise awareness during Global Mitochondrial Disease Awareness week (September 19 - September 25, 2021).
Read MoreThe Beginner's Guide to the Rare Disease Industry
We are often asked, “What should I read or watch if I want to learn more about genomics, genetic diseases, and biotech?” Well, here’s our answer!
Read MoreWhat It Feels Like to Not Have Access to Rare Disease Experts
"The fact that my life with a rare disease is too difficult a problem for doctors to solve within the allotted time constraints, and that my complexities detract from passion for medicine feels like the worst form of rejection."
Read MoreWhat It’s Like to Be an Undiagnosed Rare Disease Patient
Rare disease patients seek solace in social media connections.
Read MoreNavigating the New Features of Probably Genetic's Symptom Checker
Probably Genetic develops technology to find undiagnosed patients faster and provide them with genetic testing. The process begins with Probably Genetic’s online symptom checker.
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